Genetic tumor syndromes associated with skin malignancies
2026-10-02 Juan Luis, PhD , Paola Dal Cin, PhD Affiliation1.Centro de Investigación del Cáncer
2.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
Many inherited tumor syndromes have cutaneous manifestations providing critical insights into the important interaction of the genome with the environment, as mediated by genetic susceptibility and dramatically demonstrated by the extreme sensitivity to ultraviolet (UV) radiation seen in xeroderma pigmentosum. The table below contains selected major and well-characterized inherited syndromes specifically associated with malignant tumors of the skin.
However, there are many benign skin neoplasms encountered that can be associated with tumors with other inherited tumor syndromes , including syndromes associated with internal malignancies. 1,2 See details in (2023) WHO Skin Tumours .
| tumour syndromes associated with skin malignancies | omim |
|---|---|
| Familial melanoma | OMIM:155600 |
| BAP1-related tumour predisposition syndrome | OMIM:614327 |
| Xeroderma pigmentosum | OMIM:278700 |
| Naevoid basal cell carcinoma syndrome (Gorlin syndrome) | OMIM:109400 |
| Carney complex | OMIM:160980 |
| Muir-Torre syndrome | OMIM:158320 |
| Brooke-Spiegler and related syndromes | OMIM:605041 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 29023082 | 2017 | Be vigilant for skin manifestations of inherited cancer syndromes. | Tidman AS et al |
| 2 | 41133723 | 2025 | Benign Cutaneous Neoplasms with Syndromic Associations. | Lider S et al |
Citation
Juan Luis, PhD ; Paola Dal Cin, PhD
Genetic tumor syndromes associated with skin malignancies
Atlas Genet Cytogenet Oncol Haematol. 2026-10-02
Online version: http://atlasgeneticsoncology.org/solid-tumor/209386
